8-144991341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991341
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991341
    reference: chr 8
allele count: 13
allele frequency: 1.086030308599689e-4
allele num: 119702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12552C>T
  hgvsp: ENST00000398774.2:c.12552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12606C>T
  hgvsp: ENST00000356346.3:c.12606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12648C>T
  hgvsp: ENST00000345136.3:c.12648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12729C>T
  hgvsp: ENST00000436759.2:c.12729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12582C>T
  hgvsp: ENST00000354958.2:c.12582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12648C>T
  hgvsp: ENST00000354589.3:c.12648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12660C>T
  hgvsp: ENST00000357649.2:c.12660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13059C>T
  hgvsp: ENST00000322810.4:c.13059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12717C>T
  hgvsp: ENST00000527096.1:c.12717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4353Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

8-144991342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991342
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991342
    reference: chr 8
allele count: 19
allele frequency: 1.587381155279295e-4
allele num: 119694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12716G>A
  hgvsp: ENSP00000434583.1:p.Arg4239His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12647G>A
  hgvsp: ENSP00000344848.3:p.Arg4216His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12728G>A
  hgvsp: ENSP00000388180.2:p.Arg4243His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12647G>A
  hgvsp: ENSP00000346602.3:p.Arg4216His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12551G>A
  hgvsp: ENSP00000381756.2:p.Arg4184His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13058G>A
  hgvsp: ENSP00000323856.4:p.Arg4353His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12581G>A
  hgvsp: ENSP00000347044.2:p.Arg4194His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12659G>A
  hgvsp: ENSP00000350277.2:p.Arg4220His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12605G>A
  hgvsp: ENSP00000348702.3:p.Arg4202His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg4353His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

8-144991343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991343
    reference: chr 8
allele count: 3
allele frequency: 2.505888838771112e-5
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12658C>T
  hgvsp: ENSP00000350277.2:p.Arg4220Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12727C>T
  hgvsp: ENSP00000388180.2:p.Arg4243Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13057C>T
  hgvsp: ENSP00000323856.4:p.Arg4353Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12715C>T
  hgvsp: ENSP00000434583.1:p.Arg4239Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12646C>T
  hgvsp: ENSP00000344848.3:p.Arg4216Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12580C>T
  hgvsp: ENSP00000347044.2:p.Arg4194Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12604C>T
  hgvsp: ENSP00000348702.3:p.Arg4202Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12550C>T
  hgvsp: ENSP00000381756.2:p.Arg4184Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12646C>T
  hgvsp: ENSP00000346602.3:p.Arg4216Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6440
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg4353Cys
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-144991346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991346
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991346
    reference: chr 8
allele count: 2
allele frequency: 1.670201927413024e-5
allele num: 119746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13054G>A
  hgvsp: ENSP00000323856.4:p.Asp4352Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12577G>A
  hgvsp: ENSP00000347044.2:p.Asp4193Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12547G>A
  hgvsp: ENSP00000381756.2:p.Asp4183Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12724G>A
  hgvsp: ENSP00000388180.2:p.Asp4242Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12643G>A
  hgvsp: ENSP00000344848.3:p.Asp4215Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12655G>A
  hgvsp: ENSP00000350277.2:p.Asp4219Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12712G>A
  hgvsp: ENSP00000434583.1:p.Asp4238Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12601G>A
  hgvsp: ENSP00000348702.3:p.Asp4201Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12643G>A
  hgvsp: ENSP00000346602.3:p.Asp4215Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp4352Asn
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-144991347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991347
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991347
    reference: chr 8
allele count: 217
allele frequency: 1.812078295143296e-3
allele num: 119752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12576C>T
  hgvsp: ENST00000354958.2:c.12576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12642C>T
  hgvsp: ENST00000354589.3:c.12642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12546C>T
  hgvsp: ENST00000398774.2:c.12546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12600C>T
  hgvsp: ENST00000356346.3:c.12600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13053C>T
  hgvsp: ENST00000322810.4:c.13053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12642C>T
  hgvsp: ENST00000345136.3:c.12642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12723C>T
  hgvsp: ENST00000436759.2:c.12723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12711C>T
  hgvsp: ENST00000527096.1:c.12711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12654C>T
  hgvsp: ENST00000357649.2:c.12654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16585
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13882
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6446
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile4351Ile
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

8-144991352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991352
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991352
    reference: chr 8
allele count: 3
allele frequency: 2.504215429305999e-5
allele num: 119798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12706C>T
  hgvsp: ENSP00000434583.1:p.Leu4236Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12718C>T
  hgvsp: ENSP00000388180.2:p.Leu4240Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12637C>T
  hgvsp: ENSP00000346602.3:p.Leu4213Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12541C>T
  hgvsp: ENSP00000381756.2:p.Leu4181Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12637C>T
  hgvsp: ENSP00000344848.3:p.Leu4213Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12571C>T
  hgvsp: ENSP00000347044.2:p.Leu4191Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12595C>T
  hgvsp: ENSP00000348702.3:p.Leu4199Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13048C>T
  hgvsp: ENSP00000323856.4:p.Leu4350Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12649C>T
  hgvsp: ENSP00000350277.2:p.Leu4217Phe
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu4350Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

8-144991353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991353
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991353
    reference: chr 8
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12636C>T
  hgvsp: ENST00000345136.3:c.12636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12648C>T
  hgvsp: ENST00000357649.2:c.12648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13047C>T
  hgvsp: ENST00000322810.4:c.13047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12717C>T
  hgvsp: ENST00000436759.2:c.12717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12540C>T
  hgvsp: ENST00000398774.2:c.12540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12570C>T
  hgvsp: ENST00000354958.2:c.12570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12705C>T
  hgvsp: ENST00000527096.1:c.12705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12636C>T
  hgvsp: ENST00000354589.3:c.12636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12594C>T
  hgvsp: ENST00000356346.3:c.12594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn4349Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-144991357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991357
    reference: chr 8
allele count: 2
allele frequency: 1.669142561466175e-5
allele num: 119822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12632A>G
  hgvsp: ENSP00000346602.3:p.Lys4211Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12632A>G
  hgvsp: ENSP00000344848.3:p.Lys4211Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12644A>G
  hgvsp: ENSP00000350277.2:p.Lys4215Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13043A>G
  hgvsp: ENSP00000323856.4:p.Lys4348Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12566A>G
  hgvsp: ENSP00000347044.2:p.Lys4189Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12701A>G
  hgvsp: ENSP00000434583.1:p.Lys4234Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12590A>G
  hgvsp: ENSP00000348702.3:p.Lys4197Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12536A>G
  hgvsp: ENSP00000381756.2:p.Lys4179Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12713A>G
  hgvsp: ENSP00000388180.2:p.Lys4238Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys4348Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

8-144991361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991361
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991361
    reference: chr 8
allele count: 48
allele frequency: 4.005808422212208e-4
allele num: 119826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12709G>A
  hgvsp: ENSP00000388180.2:p.Ala4237Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12697G>A
  hgvsp: ENSP00000434583.1:p.Ala4233Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12532G>A
  hgvsp: ENSP00000381756.2:p.Ala4178Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12640G>A
  hgvsp: ENSP00000350277.2:p.Ala4214Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12562G>A
  hgvsp: ENSP00000347044.2:p.Ala4188Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13039G>A
  hgvsp: ENSP00000323856.4:p.Ala4347Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12628G>A
  hgvsp: ENSP00000346602.3:p.Ala4210Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12586G>A
  hgvsp: ENSP00000348702.3:p.Ala4196Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12628G>A
  hgvsp: ENSP00000344848.3:p.Ala4210Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala4347Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144991362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991362
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991362
    reference: chr 8
allele count: 6
allele frequency: 5.006926247976367e-5
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12696C>T
  hgvsp: ENST00000527096.1:c.12696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12531C>T
  hgvsp: ENST00000398774.2:c.12531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12561C>T
  hgvsp: ENST00000354958.2:c.12561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12627C>T
  hgvsp: ENST00000345136.3:c.12627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13038C>T
  hgvsp: ENST00000322810.4:c.13038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12627C>T
  hgvsp: ENST00000354589.3:c.12627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12639C>T
  hgvsp: ENST00000357649.2:c.12639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12708C>T
  hgvsp: ENST00000436759.2:c.12708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12585C>T
  hgvsp: ENST00000356346.3:c.12585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile4346Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

8-144991373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991373
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991373
    reference: chr 8
allele count: 2
allele frequency: 1.668696914579405e-5
allele num: 119854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12520G>A
  hgvsp: ENSP00000381756.2:p.Asp4174Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12550G>A
  hgvsp: ENSP00000347044.2:p.Asp4184Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12616G>A
  hgvsp: ENSP00000344848.3:p.Asp4206Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12574G>A
  hgvsp: ENSP00000348702.3:p.Asp4192Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13027G>A
  hgvsp: ENSP00000323856.4:p.Asp4343Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12685G>A
  hgvsp: ENSP00000434583.1:p.Asp4229Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12628G>A
  hgvsp: ENSP00000350277.2:p.Asp4210Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12697G>A
  hgvsp: ENSP00000388180.2:p.Asp4233Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12616G>A
  hgvsp: ENSP00000346602.3:p.Asp4206Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp4343Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-144991374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991374
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991374
    reference: chr 8
allele count: 56
allele frequency: 4.671883603357082e-4
allele num: 119866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12684C>T
  hgvsp: ENST00000527096.1:c.12684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12519C>T
  hgvsp: ENST00000398774.2:c.12519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12549C>T
  hgvsp: ENST00000354958.2:c.12549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12627C>T
  hgvsp: ENST00000357649.2:c.12627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13026C>T
  hgvsp: ENST00000322810.4:c.13026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12615C>T
  hgvsp: ENST00000354589.3:c.12615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12615C>T
  hgvsp: ENST00000345136.3:c.12615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12696C>T
  hgvsp: ENST00000436759.2:c.12696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12573C>T
  hgvsp: ENST00000356346.3:c.12573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16546
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile4342Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

8-144991377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991377
    reference: chr 8
allele count: 9
allele frequency: 7.507883277441314e-5
allele num: 119874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12624C>T
  hgvsp: ENST00000357649.2:c.12624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12681C>T
  hgvsp: ENST00000527096.1:c.12681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12693C>T
  hgvsp: ENST00000436759.2:c.12693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12546C>T
  hgvsp: ENST00000354958.2:c.12546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12570C>T
  hgvsp: ENST00000356346.3:c.12570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12612C>T
  hgvsp: ENST00000345136.3:c.12612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12612C>T
  hgvsp: ENST00000354589.3:c.12612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12516C>T
  hgvsp: ENST00000398774.2:c.12516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13023C>T
  hgvsp: ENST00000322810.4:c.13023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp4341Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-144991379-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991379
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991379
    reference: chr 8
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12622G>C
  hgvsp: ENSP00000350277.2:p.Asp4208His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12610G>C
  hgvsp: ENSP00000346602.3:p.Asp4204His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12514G>C
  hgvsp: ENSP00000381756.2:p.Asp4172His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12544G>C
  hgvsp: ENSP00000347044.2:p.Asp4182His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12679G>C
  hgvsp: ENSP00000434583.1:p.Asp4227His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13021G>C
  hgvsp: ENSP00000323856.4:p.Asp4341His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12691G>C
  hgvsp: ENSP00000388180.2:p.Asp4231His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12610G>C
  hgvsp: ENSP00000344848.3:p.Asp4204His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12568G>C
  hgvsp: ENSP00000348702.3:p.Asp4190His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp4341His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

8-144991380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991380
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991380
    reference: chr 8
allele count: 10
allele frequency: 8.34320612725058e-5
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12543C>T
  hgvsp: ENST00000354958.2:c.12543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13020C>T
  hgvsp: ENST00000322810.4:c.13020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12609C>T
  hgvsp: ENST00000354589.3:c.12609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12678C>T
  hgvsp: ENST00000527096.1:c.12678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12690C>T
  hgvsp: ENST00000436759.2:c.12690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12621C>T
  hgvsp: ENST00000357649.2:c.12621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12609C>T
  hgvsp: ENST00000345136.3:c.12609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12513C>T
  hgvsp: ENST00000398774.2:c.12513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12567C>T
  hgvsp: ENST00000356346.3:c.12567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr4340Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-144991388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991388
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991388
    reference: chr 8
allele count: 4
allele frequency: 3.337728008544584e-5
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12535C>T
  hgvsp: ENSP00000347044.2:p.Arg4179Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12613C>T
  hgvsp: ENSP00000350277.2:p.Arg4205Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13012C>T
  hgvsp: ENSP00000323856.4:p.Arg4338Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12601C>T
  hgvsp: ENSP00000344848.3:p.Arg4201Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12670C>T
  hgvsp: ENSP00000434583.1:p.Arg4224Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12559C>T
  hgvsp: ENSP00000348702.3:p.Arg4187Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12601C>T
  hgvsp: ENSP00000346602.3:p.Arg4201Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12505C>T
  hgvsp: ENSP00000381756.2:p.Arg4169Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12682C>T
  hgvsp: ENSP00000388180.2:p.Arg4228Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg4338Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

8-144991392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991392
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991392
    reference: chr 8
allele count: 2
allele frequency: 1.67000668002672e-5
allele num: 119760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12678C>T
  hgvsp: ENST00000436759.2:c.12678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12501C>T
  hgvsp: ENST00000398774.2:c.12501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12597C>T
  hgvsp: ENST00000354589.3:c.12597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13008C>T
  hgvsp: ENST00000322810.4:c.13008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12597C>T
  hgvsp: ENST00000345136.3:c.12597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12555C>T
  hgvsp: ENST00000356346.3:c.12555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12531C>T
  hgvsp: ENST00000354958.2:c.12531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12666C>T
  hgvsp: ENST00000527096.1:c.12666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12609C>T
  hgvsp: ENST00000357649.2:c.12609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser4336Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-144991396-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991396
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991396
    reference: chr 8
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13004G>T
  hgvsp: ENSP00000323856.4:p.Arg4335Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12662G>T
  hgvsp: ENSP00000434583.1:p.Arg4221Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12674G>T
  hgvsp: ENSP00000388180.2:p.Arg4225Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12551G>T
  hgvsp: ENSP00000348702.3:p.Arg4184Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12527G>T
  hgvsp: ENSP00000347044.2:p.Arg4176Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12593G>T
  hgvsp: ENSP00000346602.3:p.Arg4198Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12605G>T
  hgvsp: ENSP00000350277.2:p.Arg4202Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12593G>T
  hgvsp: ENSP00000344848.3:p.Arg4198Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12497G>T
  hgvsp: ENSP00000381756.2:p.Arg4166Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg4335Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-144991396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991396
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991396
    reference: chr 8
allele count: 4
allele frequency: 3.340515441532629e-5
allele num: 119742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12674G>A
  hgvsp: ENSP00000388180.2:p.Arg4225His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12593G>A
  hgvsp: ENSP00000344848.3:p.Arg4198His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12497G>A
  hgvsp: ENSP00000381756.2:p.Arg4166His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12551G>A
  hgvsp: ENSP00000348702.3:p.Arg4184His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12593G>A
  hgvsp: ENSP00000346602.3:p.Arg4198His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13004G>A
  hgvsp: ENSP00000323856.4:p.Arg4335His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12662G>A
  hgvsp: ENSP00000434583.1:p.Arg4221His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12527G>A
  hgvsp: ENSP00000347044.2:p.Arg4176His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12605G>A
  hgvsp: ENSP00000350277.2:p.Arg4202His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4335His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-144991397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991397
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991397
    reference: chr 8
allele count: 4
allele frequency: 3.340961862920335e-5
allele num: 119726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12526C>T
  hgvsp: ENSP00000347044.2:p.Arg4176Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12604C>T
  hgvsp: ENSP00000350277.2:p.Arg4202Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12661C>T
  hgvsp: ENSP00000434583.1:p.Arg4221Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12592C>T
  hgvsp: ENSP00000344848.3:p.Arg4198Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12673C>T
  hgvsp: ENSP00000388180.2:p.Arg4225Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12496C>T
  hgvsp: ENSP00000381756.2:p.Arg4166Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13003C>T
  hgvsp: ENSP00000323856.4:p.Arg4335Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12550C>T
  hgvsp: ENSP00000348702.3:p.Arg4184Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12592C>T
  hgvsp: ENSP00000346602.3:p.Arg4198Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25859
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg4335Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

8-144991399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991399
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991399
    reference: chr 8
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12602G>A
  hgvsp: ENSP00000350277.2:p.Arg4201His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12494G>A
  hgvsp: ENSP00000381756.2:p.Arg4165His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12590G>A
  hgvsp: ENSP00000346602.3:p.Arg4197His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12590G>A
  hgvsp: ENSP00000344848.3:p.Arg4197His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12659G>A
  hgvsp: ENSP00000434583.1:p.Arg4220His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12671G>A
  hgvsp: ENSP00000388180.2:p.Arg4224His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12548G>A
  hgvsp: ENSP00000348702.3:p.Arg4183His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12524G>A
  hgvsp: ENSP00000347044.2:p.Arg4175His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13001G>A
  hgvsp: ENSP00000323856.4:p.Arg4334His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg4334His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

8-144991400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991400
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991400
    reference: chr 8
allele count: 5
allele frequency: 4.175225879720093e-5
allele num: 119754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12589C>T
  hgvsp: ENSP00000346602.3:p.Arg4197Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12658C>T
  hgvsp: ENSP00000434583.1:p.Arg4220Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12523C>T
  hgvsp: ENSP00000347044.2:p.Arg4175Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12601C>T
  hgvsp: ENSP00000350277.2:p.Arg4201Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12493C>T
  hgvsp: ENSP00000381756.2:p.Arg4165Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.13000C>T
  hgvsp: ENSP00000323856.4:p.Arg4334Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12670C>T
  hgvsp: ENSP00000388180.2:p.Arg4224Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12589C>T
  hgvsp: ENSP00000344848.3:p.Arg4197Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12547C>T
  hgvsp: ENSP00000348702.3:p.Arg4183Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg4334Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

8-144991403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991403
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991403
    reference: chr 8
allele count: 3
allele frequency: 2.505637684790779e-5
allele num: 119730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12655G>A
  hgvsp: ENSP00000434583.1:p.Asp4219Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12490G>A
  hgvsp: ENSP00000381756.2:p.Asp4164Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12997G>A
  hgvsp: ENSP00000323856.4:p.Asp4333Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12598G>A
  hgvsp: ENSP00000350277.2:p.Asp4200Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12544G>A
  hgvsp: ENSP00000348702.3:p.Asp4182Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12520G>A
  hgvsp: ENSP00000347044.2:p.Asp4174Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12586G>A
  hgvsp: ENSP00000346602.3:p.Asp4196Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12667G>A
  hgvsp: ENSP00000388180.2:p.Asp4223Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12586G>A
  hgvsp: ENSP00000344848.3:p.Asp4196Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp4333Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

8-144991406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991406
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991406
    reference: chr 8
allele count: 1
allele frequency: 8.348499774590506e-6
allele num: 119782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12517A>G
  hgvsp: ENSP00000347044.2:p.Ile4173Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12994A>G
  hgvsp: ENSP00000323856.4:p.Ile4332Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12583A>G
  hgvsp: ENSP00000346602.3:p.Ile4195Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12487A>G
  hgvsp: ENSP00000381756.2:p.Ile4163Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12652A>G
  hgvsp: ENSP00000434583.1:p.Ile4218Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12595A>G
  hgvsp: ENSP00000350277.2:p.Ile4199Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12583A>G
  hgvsp: ENSP00000344848.3:p.Ile4195Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12541A>G
  hgvsp: ENSP00000348702.3:p.Ile4181Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12664A>G
  hgvsp: ENSP00000388180.2:p.Ile4222Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile4332Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-144991407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991407
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991407
    reference: chr 8
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12582C>T
  hgvsp: ENST00000354589.3:c.12582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12993C>T
  hgvsp: ENST00000322810.4:c.12993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12594C>T
  hgvsp: ENST00000357649.2:c.12594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12540C>T
  hgvsp: ENST00000356346.3:c.12540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12486C>T
  hgvsp: ENST00000398774.2:c.12486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12582C>T
  hgvsp: ENST00000345136.3:c.12582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12651C>T
  hgvsp: ENST00000527096.1:c.12651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12516C>T
  hgvsp: ENST00000354958.2:c.12516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12663C>T
  hgvsp: ENST00000436759.2:c.12663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Ile4331Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

8-144991417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991417
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991417
    reference: chr 8
allele count: 2
allele frequency: 1.669727834362999e-5
allele num: 119780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12476A>G
  hgvsp: ENSP00000381756.2:p.Lys4159Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12983A>G
  hgvsp: ENSP00000323856.4:p.Lys4328Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12572A>G
  hgvsp: ENSP00000344848.3:p.Lys4191Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12572A>G
  hgvsp: ENSP00000346602.3:p.Lys4191Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12653A>G
  hgvsp: ENSP00000388180.2:p.Lys4218Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12641A>G
  hgvsp: ENSP00000434583.1:p.Lys4214Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12530A>G
  hgvsp: ENSP00000348702.3:p.Lys4177Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12506A>G
  hgvsp: ENSP00000347044.2:p.Lys4169Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12584A>G
  hgvsp: ENSP00000350277.2:p.Lys4195Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13312
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys4328Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-144991424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991424
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991424
    reference: chr 8
allele count: 7
allele frequency: 5.842876698607726e-5
allele num: 119804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12499G>A
  hgvsp: ENSP00000347044.2:p.Val4167Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12634G>A
  hgvsp: ENSP00000434583.1:p.Val4212Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12469G>A
  hgvsp: ENSP00000381756.2:p.Val4157Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12523G>A
  hgvsp: ENSP00000348702.3:p.Val4175Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12976G>A
  hgvsp: ENSP00000323856.4:p.Val4326Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12577G>A
  hgvsp: ENSP00000350277.2:p.Val4193Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12565G>A
  hgvsp: ENSP00000344848.3:p.Val4189Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12565G>A
  hgvsp: ENSP00000346602.3:p.Val4189Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12646G>A
  hgvsp: ENSP00000388180.2:p.Val4216Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26367
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val4326Met
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-144991425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991425
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991425
    reference: chr 8
allele count: 21
allele frequency: 1.753214226081149e-4
allele num: 119780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12645C>T
  hgvsp: ENST00000436759.2:c.12645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12498C>T
  hgvsp: ENST00000354958.2:c.12498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12522C>T
  hgvsp: ENST00000356346.3:c.12522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12564C>T
  hgvsp: ENST00000354589.3:c.12564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12975C>T
  hgvsp: ENST00000322810.4:c.12975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12633C>T
  hgvsp: ENST00000527096.1:c.12633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12564C>T
  hgvsp: ENST00000345136.3:c.12564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12576C>T
  hgvsp: ENST00000357649.2:c.12576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12468C>T
  hgvsp: ENST00000398774.2:c.12468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly4325Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-144991427-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991427
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991427
    reference: chr 8
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12562G>T
  hgvsp: ENSP00000344848.3:p.Gly4188Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12562G>T
  hgvsp: ENSP00000346602.3:p.Gly4188Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12496G>T
  hgvsp: ENSP00000347044.2:p.Gly4166Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12520G>T
  hgvsp: ENSP00000348702.3:p.Gly4174Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12631G>T
  hgvsp: ENSP00000434583.1:p.Gly4211Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12643G>T
  hgvsp: ENSP00000388180.2:p.Gly4215Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12574G>T
  hgvsp: ENSP00000350277.2:p.Gly4192Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12466G>T
  hgvsp: ENSP00000381756.2:p.Gly4156Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12973G>T
  hgvsp: ENSP00000323856.4:p.Gly4325Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly4325Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

8-144991427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991427
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991427
    reference: chr 8
allele count: 4
allele frequency: 3.338786684918701e-5
allele num: 119804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12973G>A
  hgvsp: ENSP00000323856.4:p.Gly4325Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12562G>A
  hgvsp: ENSP00000346602.3:p.Gly4188Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12520G>A
  hgvsp: ENSP00000348702.3:p.Gly4174Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12574G>A
  hgvsp: ENSP00000350277.2:p.Gly4192Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12466G>A
  hgvsp: ENSP00000381756.2:p.Gly4156Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12562G>A
  hgvsp: ENSP00000344848.3:p.Gly4188Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12631G>A
  hgvsp: ENSP00000434583.1:p.Gly4211Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12496G>A
  hgvsp: ENSP00000347044.2:p.Gly4166Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12643G>A
  hgvsp: ENSP00000388180.2:p.Gly4215Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly4325Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-144991428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991428
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991428
    reference: chr 8
allele count: 3029
allele frequency: 2.528296217154686e-2
allele num: 119804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12519C>T
  hgvsp: ENST00000356346.3:c.12519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12561C>T
  hgvsp: ENST00000345136.3:c.12561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12495C>T
  hgvsp: ENST00000354958.2:c.12495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12630C>T
  hgvsp: ENST00000527096.1:c.12630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12561C>T
  hgvsp: ENST00000354589.3:c.12561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12465C>T
  hgvsp: ENST00000398774.2:c.12465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12642C>T
  hgvsp: ENST00000436759.2:c.12642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12972C>T
  hgvsp: ENST00000322810.4:c.12972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12573C>T
  hgvsp: ENST00000357649.2:c.12573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 2.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 4.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 5.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.25e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 14247
  bin: 9.75e1
  variant carriers: 2588
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 4
hgvs: p.Asp4324Asp
num of homozygotes: 392
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-144991431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991431
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991431
    reference: chr 8
allele count: 10
allele frequency: 8.344180768332165e-5
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12558G>A
  hgvsp: ENST00000345136.3:c.12558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12516G>A
  hgvsp: ENST00000356346.3:c.12516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12570G>A
  hgvsp: ENST00000357649.2:c.12570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12492G>A
  hgvsp: ENST00000354958.2:c.12492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12969G>A
  hgvsp: ENST00000322810.4:c.12969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12639G>A
  hgvsp: ENST00000436759.2:c.12639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12462G>A
  hgvsp: ENST00000398774.2:c.12462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12558G>A
  hgvsp: ENST00000354589.3:c.12558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12627G>A
  hgvsp: ENST00000527096.1:c.12627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser4323Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-144991431-CGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991431
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991428
    reference: chr 8
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12567_12569delCTC
  hgvsp: ENSP00000350277.2:p.Ser4190del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12489_12491delCTC
  hgvsp: ENSP00000347044.2:p.Ser4164del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12513_12515delCTC
  hgvsp: ENSP00000348702.3:p.Ser4172del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12966_12968delCTC
  hgvsp: ENSP00000323856.4:p.Ser4323del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12459_12461delCTC
  hgvsp: ENSP00000381756.2:p.Ser4154del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12555_12557delCTC
  hgvsp: ENSP00000344848.3:p.Ser4186del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12636_12638delCTC
  hgvsp: ENSP00000388180.2:p.Ser4213del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12555_12557delCTC
  hgvsp: ENSP00000346602.3:p.Ser4186del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12624_12626delCTC
  hgvsp: ENSP00000434583.1:p.Ser4209del
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser4323del
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: CGAG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

8-144991432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991432
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991432
    reference: chr 8
allele count: 3
allele frequency: 2.503504906869618e-5
allele num: 119832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12638C>T
  hgvsp: ENSP00000388180.2:p.Ser4213Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12968C>T
  hgvsp: ENSP00000323856.4:p.Ser4323Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12626C>T
  hgvsp: ENSP00000434583.1:p.Ser4209Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12557C>T
  hgvsp: ENSP00000346602.3:p.Ser4186Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12557C>T
  hgvsp: ENSP00000344848.3:p.Ser4186Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12491C>T
  hgvsp: ENSP00000347044.2:p.Ser4164Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12515C>T
  hgvsp: ENSP00000348702.3:p.Ser4172Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12569C>T
  hgvsp: ENSP00000350277.2:p.Ser4190Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12461C>T
  hgvsp: ENSP00000381756.2:p.Ser4154Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12396
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser4323Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

8-144991439-AGATGGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991439
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991433
    reference: chr 8
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsp: ENSP00000350277.2:p.Thr4186_Ile4187del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsp: ENSP00000434583.1:p.Thr4205_Ile4206del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsp: ENSP00000347044.2:p.Thr4160_Ile4161del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsp: ENSP00000346602.3:p.Thr4182_Ile4183del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsp: ENSP00000388180.2:p.Thr4209_Ile4210del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsp: ENSP00000344848.3:p.Thr4182_Ile4183del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsp: ENSP00000348702.3:p.Thr4168_Ile4169del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsp: ENSP00000381756.2:p.Thr4150_Ile4151del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsp: ENSP00000323856.4:p.Thr4319_Ile4320del
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr4319_Ile4320del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: AGATGGT
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-144991440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991440
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991440
    reference: chr 8
allele count: 221
allele frequency: 1.843633208756006e-3
allele num: 119872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12507C>T
  hgvsp: ENST00000356346.3:c.12507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12549C>T
  hgvsp: ENST00000354589.3:c.12549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12960C>T
  hgvsp: ENST00000322810.4:c.12960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12453C>T
  hgvsp: ENST00000398774.2:c.12453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12618C>T
  hgvsp: ENST00000527096.1:c.12618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12561C>T
  hgvsp: ENST00000357649.2:c.12561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12549C>T
  hgvsp: ENST00000345136.3:c.12549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12483C>T
  hgvsp: ENST00000354958.2:c.12483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12630C>T
  hgvsp: ENST00000436759.2:c.12630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile4320Ile
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

8-144991441-ATGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991441
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991438
    reference: chr 8
allele count: 2
allele frequency: 1.668446342765617e-5
allele num: 119872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12545_12547delCCA
  hgvsp: ENSP00000344848.3:p.Thr4182del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12449_12451delCCA
  hgvsp: ENSP00000381756.2:p.Thr4150del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12614_12616delCCA
  hgvsp: ENSP00000434583.1:p.Thr4205del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12956_12958delCCA
  hgvsp: ENSP00000323856.4:p.Thr4319del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12626_12628delCCA
  hgvsp: ENSP00000388180.2:p.Thr4209del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12479_12481delCCA
  hgvsp: ENSP00000347044.2:p.Thr4160del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12557_12559delCCA
  hgvsp: ENSP00000350277.2:p.Thr4186del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12545_12547delCCA
  hgvsp: ENSP00000346602.3:p.Thr4182del
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12503_12505delCCA
  hgvsp: ENSP00000348702.3:p.Thr4168del
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27167
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr4319del
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: ATGG
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144991444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991444
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991444
    reference: chr 8
allele count: 1
allele frequency: 8.34153584357952e-6
allele num: 119882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12479C>T
  hgvsp: ENSP00000347044.2:p.Thr4160Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12545C>T
  hgvsp: ENSP00000344848.3:p.Thr4182Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12956C>T
  hgvsp: ENSP00000323856.4:p.Thr4319Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12614C>T
  hgvsp: ENSP00000434583.1:p.Thr4205Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12503C>T
  hgvsp: ENSP00000348702.3:p.Thr4168Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12557C>T
  hgvsp: ENSP00000350277.2:p.Thr4186Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12449C>T
  hgvsp: ENSP00000381756.2:p.Thr4150Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12626C>T
  hgvsp: ENSP00000388180.2:p.Thr4209Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12545C>T
  hgvsp: ENSP00000346602.3:p.Thr4182Ile
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr4319Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-144991449-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991449
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991449
    reference: chr 8
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12498G>C
  hgvsp: ENSP00000348702.3:p.Glu4166Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12552G>C
  hgvsp: ENSP00000350277.2:p.Glu4184Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12540G>C
  hgvsp: ENSP00000344848.3:p.Glu4180Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12951G>C
  hgvsp: ENSP00000323856.4:p.Glu4317Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12444G>C
  hgvsp: ENSP00000381756.2:p.Glu4148Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12609G>C
  hgvsp: ENSP00000434583.1:p.Glu4203Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12621G>C
  hgvsp: ENSP00000388180.2:p.Glu4207Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12474G>C
  hgvsp: ENSP00000347044.2:p.Glu4158Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12540G>C
  hgvsp: ENSP00000346602.3:p.Glu4180Asp
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu4317Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-144991455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991455
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991455
    reference: chr 8
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12468G>C
  hgvsp: ENSP00000347044.2:p.Trp4156Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12534G>C
  hgvsp: ENSP00000346602.3:p.Trp4178Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12438G>C
  hgvsp: ENSP00000381756.2:p.Trp4146Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12492G>C
  hgvsp: ENSP00000348702.3:p.Trp4164Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12615G>C
  hgvsp: ENSP00000388180.2:p.Trp4205Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12546G>C
  hgvsp: ENSP00000350277.2:p.Trp4182Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12603G>C
  hgvsp: ENSP00000434583.1:p.Trp4201Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12534G>C
  hgvsp: ENSP00000344848.3:p.Trp4178Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12945G>C
  hgvsp: ENSP00000323856.4:p.Trp4315Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp4315Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-144991461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991461
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991461
    reference: chr 8
allele count: 7
allele frequency: 5.834694762111159e-5
allele num: 119972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12528C>T
  hgvsp: ENST00000354589.3:c.12528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12609C>T
  hgvsp: ENST00000436759.2:c.12609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12540C>T
  hgvsp: ENST00000357649.2:c.12540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12528C>T
  hgvsp: ENST00000345136.3:c.12528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12597C>T
  hgvsp: ENST00000527096.1:c.12597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12432C>T
  hgvsp: ENST00000398774.2:c.12432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12462C>T
  hgvsp: ENST00000354958.2:c.12462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12486C>T
  hgvsp: ENST00000356346.3:c.12486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12939C>T
  hgvsp: ENST00000322810.4:c.12939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys4313Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-144991467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991467
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991467
    reference: chr 8
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12603G>A
  hgvsp: ENST00000436759.2:c.12603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12591G>A
  hgvsp: ENST00000527096.1:c.12591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12534G>A
  hgvsp: ENST00000357649.2:c.12534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12456G>A
  hgvsp: ENST00000354958.2:c.12456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12522G>A
  hgvsp: ENST00000345136.3:c.12522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12480G>A
  hgvsp: ENST00000356346.3:c.12480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12522G>A
  hgvsp: ENST00000354589.3:c.12522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12426G>A
  hgvsp: ENST00000398774.2:c.12426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12933G>A
  hgvsp: ENST00000322810.4:c.12933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27394
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln4311Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

8-144991473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991473
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991473
    reference: chr 8
allele count: 3
allele frequency: 2.499416802746026e-5
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12516C>T
  hgvsp: ENST00000354589.3:c.12516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12474C>T
  hgvsp: ENST00000356346.3:c.12474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12516C>T
  hgvsp: ENST00000345136.3:c.12516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12927C>T
  hgvsp: ENST00000322810.4:c.12927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12450C>T
  hgvsp: ENST00000354958.2:c.12450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12528C>T
  hgvsp: ENST00000357649.2:c.12528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12597C>T
  hgvsp: ENST00000436759.2:c.12597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12585C>T
  hgvsp: ENST00000527096.1:c.12585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12420C>T
  hgvsp: ENST00000398774.2:c.12420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser4309Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

8-144991473-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991473
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991473
    reference: chr 8
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12597C>A
  hgvsp: ENST00000436759.2:c.12597C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12474C>A
  hgvsp: ENST00000356346.3:c.12474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12450C>A
  hgvsp: ENST00000354958.2:c.12450C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12585C>A
  hgvsp: ENST00000527096.1:c.12585C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12927C>A
  hgvsp: ENST00000322810.4:c.12927C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12420C>A
  hgvsp: ENST00000398774.2:c.12420C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12516C>A
  hgvsp: ENST00000345136.3:c.12516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12516C>A
  hgvsp: ENST00000354589.3:c.12516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12528C>A
  hgvsp: ENST00000357649.2:c.12528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser4309Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

8-144991482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991482
    reference: chr 8
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12519G>A
  hgvsp: ENST00000357649.2:c.12519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12576G>A
  hgvsp: ENST00000527096.1:c.12576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12507G>A
  hgvsp: ENST00000345136.3:c.12507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12411G>A
  hgvsp: ENST00000398774.2:c.12411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12465G>A
  hgvsp: ENST00000356346.3:c.12465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12441G>A
  hgvsp: ENST00000354958.2:c.12441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12918G>A
  hgvsp: ENST00000322810.4:c.12918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12588G>A
  hgvsp: ENST00000436759.2:c.12588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12507G>A
  hgvsp: ENST00000354589.3:c.12507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6636
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4306Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-144991488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991488
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991488
    reference: chr 8
allele count: 4
allele frequency: 3.330557868442964e-5
allele num: 120100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12405G>A
  hgvsp: ENST00000398774.2:c.12405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12435G>A
  hgvsp: ENST00000354958.2:c.12435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12570G>A
  hgvsp: ENST00000527096.1:c.12570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12912G>A
  hgvsp: ENST00000322810.4:c.12912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12513G>A
  hgvsp: ENST00000357649.2:c.12513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12501G>A
  hgvsp: ENST00000354589.3:c.12501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12459G>A
  hgvsp: ENST00000356346.3:c.12459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12501G>A
  hgvsp: ENST00000345136.3:c.12501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12582G>A
  hgvsp: ENST00000436759.2:c.12582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr4304Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

8-144991489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991489
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991489
    reference: chr 8
allele count: 2
allele frequency: 1.66514028806927e-5
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12581C>T
  hgvsp: ENSP00000388180.2:p.Thr4194Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12500C>T
  hgvsp: ENSP00000344848.3:p.Thr4167Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12500C>T
  hgvsp: ENSP00000346602.3:p.Thr4167Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12512C>T
  hgvsp: ENSP00000350277.2:p.Thr4171Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12434C>T
  hgvsp: ENSP00000347044.2:p.Thr4145Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12404C>T
  hgvsp: ENSP00000381756.2:p.Thr4135Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12569C>T
  hgvsp: ENSP00000434583.1:p.Thr4190Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12458C>T
  hgvsp: ENSP00000348702.3:p.Thr4153Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12911C>T
  hgvsp: ENSP00000323856.4:p.Thr4304Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr4304Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

8-144991491-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991491
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991491
    reference: chr 8
allele count: 2
allele frequency: 1.664890783164624e-5
allele num: 120128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12432G>C
  hgvsp: ENSP00000347044.2:p.Gln4144His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12579G>C
  hgvsp: ENSP00000388180.2:p.Gln4193His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12510G>C
  hgvsp: ENSP00000350277.2:p.Gln4170His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12498G>C
  hgvsp: ENSP00000344848.3:p.Gln4166His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12909G>C
  hgvsp: ENSP00000323856.4:p.Gln4303His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12456G>C
  hgvsp: ENSP00000348702.3:p.Gln4152His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12567G>C
  hgvsp: ENSP00000434583.1:p.Gln4189His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12402G>C
  hgvsp: ENSP00000381756.2:p.Gln4134His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12498G>C
  hgvsp: ENSP00000346602.3:p.Gln4166His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln4303His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-144991491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991491
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991491
    reference: chr 8
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12456G>A
  hgvsp: ENST00000356346.3:c.12456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12498G>A
  hgvsp: ENST00000345136.3:c.12498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12567G>A
  hgvsp: ENST00000527096.1:c.12567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12579G>A
  hgvsp: ENST00000436759.2:c.12579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12510G>A
  hgvsp: ENST00000357649.2:c.12510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12909G>A
  hgvsp: ENST00000322810.4:c.12909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12498G>A
  hgvsp: ENST00000354589.3:c.12498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12402G>A
  hgvsp: ENST00000398774.2:c.12402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12432G>A
  hgvsp: ENST00000354958.2:c.12432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln4303Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

8-144991495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991495
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991495
    reference: chr 8
allele count: 3
allele frequency: 2.497627254108597e-5
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12575A>G
  hgvsp: ENSP00000388180.2:p.His4192Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12563A>G
  hgvsp: ENSP00000434583.1:p.His4188Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12494A>G
  hgvsp: ENSP00000344848.3:p.His4165Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12428A>G
  hgvsp: ENSP00000347044.2:p.His4143Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12398A>G
  hgvsp: ENSP00000381756.2:p.His4133Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12905A>G
  hgvsp: ENSP00000323856.4:p.His4302Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12494A>G
  hgvsp: ENSP00000346602.3:p.His4165Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12506A>G
  hgvsp: ENSP00000350277.2:p.His4169Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12452A>G
  hgvsp: ENSP00000348702.3:p.His4151Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His4302Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-144991508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991508
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991508
    reference: chr 8
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12415G>A
  hgvsp: ENSP00000347044.2:p.Gly4139Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12892G>A
  hgvsp: ENSP00000323856.4:p.Gly4298Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12481G>A
  hgvsp: ENSP00000344848.3:p.Gly4161Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12550G>A
  hgvsp: ENSP00000434583.1:p.Gly4184Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12385G>A
  hgvsp: ENSP00000381756.2:p.Gly4129Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12493G>A
  hgvsp: ENSP00000350277.2:p.Gly4165Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12439G>A
  hgvsp: ENSP00000348702.3:p.Gly4147Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12562G>A
  hgvsp: ENSP00000388180.2:p.Gly4188Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12481G>A
  hgvsp: ENSP00000346602.3:p.Gly4161Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly4298Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

8-144991513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991513
    reference: chr 8
allele count: 4
allele frequency: 3.328783995206551e-5
allele num: 120164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12476G>A
  hgvsp: ENSP00000346602.3:p.Arg4159His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12476G>A
  hgvsp: ENSP00000344848.3:p.Arg4159His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12434G>A
  hgvsp: ENSP00000348702.3:p.Arg4145His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12410G>A
  hgvsp: ENSP00000347044.2:p.Arg4137His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12488G>A
  hgvsp: ENSP00000350277.2:p.Arg4163His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12380G>A
  hgvsp: ENSP00000381756.2:p.Arg4127His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12887G>A
  hgvsp: ENSP00000323856.4:p.Arg4296His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12545G>A
  hgvsp: ENSP00000434583.1:p.Arg4182His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12557G>A
  hgvsp: ENSP00000388180.2:p.Arg4186His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg4296His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

8-144991514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991514
    reference: chr 8
allele count: 57
allele frequency: 4.743201411310455e-4
allele num: 120172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12487C>T
  hgvsp: ENSP00000350277.2:p.Arg4163Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12475C>T
  hgvsp: ENSP00000346602.3:p.Arg4159Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12544C>T
  hgvsp: ENSP00000434583.1:p.Arg4182Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12433C>T
  hgvsp: ENSP00000348702.3:p.Arg4145Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12409C>T
  hgvsp: ENSP00000347044.2:p.Arg4137Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12475C>T
  hgvsp: ENSP00000344848.3:p.Arg4159Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12886C>T
  hgvsp: ENSP00000323856.4:p.Arg4296Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12556C>T
  hgvsp: ENSP00000388180.2:p.Arg4186Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12379C>T
  hgvsp: ENSP00000381756.2:p.Arg4127Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg4296Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-144991523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991523
    reference: chr 8
allele count: 3
allele frequency: 2.495591122350514e-5
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12547G>A
  hgvsp: ENSP00000388180.2:p.Glu4183Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12424G>A
  hgvsp: ENSP00000348702.3:p.Glu4142Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12535G>A
  hgvsp: ENSP00000434583.1:p.Glu4179Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12400G>A
  hgvsp: ENSP00000347044.2:p.Glu4134Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12478G>A
  hgvsp: ENSP00000350277.2:p.Glu4160Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12370G>A
  hgvsp: ENSP00000381756.2:p.Glu4124Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12466G>A
  hgvsp: ENSP00000344848.3:p.Glu4156Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12877G>A
  hgvsp: ENSP00000323856.4:p.Glu4293Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12466G>A
  hgvsp: ENSP00000346602.3:p.Glu4156Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12386
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu4293Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-144991524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991524
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991524
    reference: chr 8
allele count: 28
allele frequency: 2.329179629660439e-4
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12465C>T
  hgvsp: ENST00000354589.3:c.12465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12399C>T
  hgvsp: ENST00000354958.2:c.12399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12546C>T
  hgvsp: ENST00000436759.2:c.12546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12477C>T
  hgvsp: ENST00000357649.2:c.12477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12876C>T
  hgvsp: ENST00000322810.4:c.12876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12534C>T
  hgvsp: ENST00000527096.1:c.12534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12465C>T
  hgvsp: ENST00000345136.3:c.12465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12369C>T
  hgvsp: ENST00000398774.2:c.12369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12423C>T
  hgvsp: ENST00000356346.3:c.12423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr4292Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

8-144991534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991534
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991534
    reference: chr 8
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12455T>C
  hgvsp: ENSP00000344848.3:p.Met4152Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12467T>C
  hgvsp: ENSP00000350277.2:p.Met4156Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12455T>C
  hgvsp: ENSP00000346602.3:p.Met4152Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12413T>C
  hgvsp: ENSP00000348702.3:p.Met4138Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12389T>C
  hgvsp: ENSP00000347044.2:p.Met4130Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12524T>C
  hgvsp: ENSP00000434583.1:p.Met4175Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12536T>C
  hgvsp: ENSP00000388180.2:p.Met4179Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12359T>C
  hgvsp: ENSP00000381756.2:p.Met4120Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12866T>C
  hgvsp: ENSP00000323856.4:p.Met4289Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met4289Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

8-144991545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991545
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991545
    reference: chr 8
allele count: 21
allele frequency: 1.745490815393567e-4
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12855G>A
  hgvsp: ENST00000322810.4:c.12855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12513G>A
  hgvsp: ENST00000527096.1:c.12513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12456G>A
  hgvsp: ENST00000357649.2:c.12456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12444G>A
  hgvsp: ENST00000345136.3:c.12444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12402G>A
  hgvsp: ENST00000356346.3:c.12402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12444G>A
  hgvsp: ENST00000354589.3:c.12444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12348G>A
  hgvsp: ENST00000398774.2:c.12348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12378G>A
  hgvsp: ENST00000354958.2:c.12378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12525G>A
  hgvsp: ENST00000436759.2:c.12525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr4285Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-144991546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991546
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991546
    reference: chr 8
allele count: 3
allele frequency: 2.4933925098489e-5
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12377C>T
  hgvsp: ENSP00000347044.2:p.Thr4126Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12443C>T
  hgvsp: ENSP00000344848.3:p.Thr4148Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12455C>T
  hgvsp: ENSP00000350277.2:p.Thr4152Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12524C>T
  hgvsp: ENSP00000388180.2:p.Thr4175Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12347C>T
  hgvsp: ENSP00000381756.2:p.Thr4116Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12854C>T
  hgvsp: ENSP00000323856.4:p.Thr4285Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12443C>T
  hgvsp: ENSP00000346602.3:p.Thr4148Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12512C>T
  hgvsp: ENSP00000434583.1:p.Thr4171Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12401C>T
  hgvsp: ENSP00000348702.3:p.Thr4134Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr4285Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-144991550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991550
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991550
    reference: chr 8
allele count: 3
allele frequency: 2.493599760614423e-5
allele num: 120308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12373G>A
  hgvsp: ENSP00000347044.2:p.Glu4125Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12451G>A
  hgvsp: ENSP00000350277.2:p.Glu4151Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12520G>A
  hgvsp: ENSP00000388180.2:p.Glu4174Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12508G>A
  hgvsp: ENSP00000434583.1:p.Glu4170Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12850G>A
  hgvsp: ENSP00000323856.4:p.Glu4284Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12439G>A
  hgvsp: ENSP00000346602.3:p.Glu4147Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12439G>A
  hgvsp: ENSP00000344848.3:p.Glu4147Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12343G>A
  hgvsp: ENSP00000381756.2:p.Glu4115Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12397G>A
  hgvsp: ENSP00000348702.3:p.Glu4133Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12374
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu4284Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144991551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991551
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991551
    reference: chr 8
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12396C>G
  hgvsp: ENST00000356346.3:c.12396C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12438C>G
  hgvsp: ENST00000345136.3:c.12438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12372C>G
  hgvsp: ENST00000354958.2:c.12372C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12342C>G
  hgvsp: ENST00000398774.2:c.12342C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12519C>G
  hgvsp: ENST00000436759.2:c.12519C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12450C>G
  hgvsp: ENST00000357649.2:c.12450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12507C>G
  hgvsp: ENST00000527096.1:c.12507C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12849C>G
  hgvsp: ENST00000322810.4:c.12849C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12438C>G
  hgvsp: ENST00000354589.3:c.12438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro4283Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-144991556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991556
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991556
    reference: chr 8
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12391G>A
  hgvsp: ENSP00000348702.3:p.Asp4131Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12433G>A
  hgvsp: ENSP00000346602.3:p.Asp4145Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12844G>A
  hgvsp: ENSP00000323856.4:p.Asp4282Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12445G>A
  hgvsp: ENSP00000350277.2:p.Asp4149Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12433G>A
  hgvsp: ENSP00000344848.3:p.Asp4145Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12337G>A
  hgvsp: ENSP00000381756.2:p.Asp4113Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12502G>A
  hgvsp: ENSP00000434583.1:p.Asp4168Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12367G>A
  hgvsp: ENSP00000347044.2:p.Asp4123Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12514G>A
  hgvsp: ENSP00000388180.2:p.Asp4172Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12367
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp4282Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-144991557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991557
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991557
    reference: chr 8
allele count: 2
allele frequency: 1.6619025460347e-5
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12501G>T
  hgvsp: ENST00000527096.1:c.12501G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12843G>T
  hgvsp: ENST00000322810.4:c.12843G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12432G>T
  hgvsp: ENST00000345136.3:c.12432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12513G>T
  hgvsp: ENST00000436759.2:c.12513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12390G>T
  hgvsp: ENST00000356346.3:c.12390G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12366G>T
  hgvsp: ENST00000354958.2:c.12366G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12432G>T
  hgvsp: ENST00000354589.3:c.12432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12444G>T
  hgvsp: ENST00000357649.2:c.12444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12336G>T
  hgvsp: ENST00000398774.2:c.12336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val4281Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

8-144991559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991559
    reference: chr 8
allele count: 2
allele frequency: 1.6619025460347e-5
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12334G>A
  hgvsp: ENSP00000381756.2:p.Val4112Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12511G>A
  hgvsp: ENSP00000388180.2:p.Val4171Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12430G>A
  hgvsp: ENSP00000346602.3:p.Val4144Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12364G>A
  hgvsp: ENSP00000347044.2:p.Val4122Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12388G>A
  hgvsp: ENSP00000348702.3:p.Val4130Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12499G>A
  hgvsp: ENSP00000434583.1:p.Val4167Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12841G>A
  hgvsp: ENSP00000323856.4:p.Val4281Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12430G>A
  hgvsp: ENSP00000344848.3:p.Val4144Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12442G>A
  hgvsp: ENSP00000350277.2:p.Val4148Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val4281Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

8-144991560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991560
    reference: chr 8
allele count: 3
allele frequency: 2.492895248541656e-5
allele num: 120342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12363C>T
  hgvsp: ENST00000354958.2:c.12363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12387C>T
  hgvsp: ENST00000356346.3:c.12387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12333C>T
  hgvsp: ENST00000398774.2:c.12333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12441C>T
  hgvsp: ENST00000357649.2:c.12441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12510C>T
  hgvsp: ENST00000436759.2:c.12510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12429C>T
  hgvsp: ENST00000354589.3:c.12429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12840C>T
  hgvsp: ENST00000322810.4:c.12840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12498C>T
  hgvsp: ENST00000527096.1:c.12498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12429C>T
  hgvsp: ENST00000345136.3:c.12429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile4280Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-144991563-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991563
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991563
    reference: chr 8
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12507C>G
  hgvsp: ENST00000436759.2:c.12507C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12495C>G
  hgvsp: ENST00000527096.1:c.12495C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12426C>G
  hgvsp: ENST00000345136.3:c.12426C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12360C>G
  hgvsp: ENST00000354958.2:c.12360C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12426C>G
  hgvsp: ENST00000354589.3:c.12426C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12330C>G
  hgvsp: ENST00000398774.2:c.12330C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12384C>G
  hgvsp: ENST00000356346.3:c.12384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12837C>G
  hgvsp: ENST00000322810.4:c.12837C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12438C>G
  hgvsp: ENST00000357649.2:c.12438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val4279Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

8-144991579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991579
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991579
    reference: chr 8
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12479G>A
  hgvsp: ENSP00000434583.1:p.Arg4160His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12821G>A
  hgvsp: ENSP00000323856.4:p.Arg4274His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12344G>A
  hgvsp: ENSP00000347044.2:p.Arg4115His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12410G>A
  hgvsp: ENSP00000346602.3:p.Arg4137His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12410G>A
  hgvsp: ENSP00000344848.3:p.Arg4137His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12314G>A
  hgvsp: ENSP00000381756.2:p.Arg4105His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12422G>A
  hgvsp: ENSP00000350277.2:p.Arg4141His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12368G>A
  hgvsp: ENSP00000348702.3:p.Arg4123His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12491G>A
  hgvsp: ENSP00000388180.2:p.Arg4164His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4274His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-144991581-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991581
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991581
    reference: chr 8
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12312G>C
  hgvsp: ENST00000398774.2:c.12312G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12342G>C
  hgvsp: ENST00000354958.2:c.12342G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12819G>C
  hgvsp: ENST00000322810.4:c.12819G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12366G>C
  hgvsp: ENST00000356346.3:c.12366G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12408G>C
  hgvsp: ENST00000345136.3:c.12408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12420G>C
  hgvsp: ENST00000357649.2:c.12420G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12408G>C
  hgvsp: ENST00000354589.3:c.12408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12477G>C
  hgvsp: ENST00000527096.1:c.12477G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12489G>C
  hgvsp: ENST00000436759.2:c.12489G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val4273Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

8-144991583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991583
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991583
    reference: chr 8
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12487G>A
  hgvsp: ENSP00000388180.2:p.Val4163Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12340G>A
  hgvsp: ENSP00000347044.2:p.Val4114Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12418G>A
  hgvsp: ENSP00000350277.2:p.Val4140Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12406G>A
  hgvsp: ENSP00000344848.3:p.Val4136Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12817G>A
  hgvsp: ENSP00000323856.4:p.Val4273Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12475G>A
  hgvsp: ENSP00000434583.1:p.Val4159Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12310G>A
  hgvsp: ENSP00000381756.2:p.Val4104Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12406G>A
  hgvsp: ENSP00000346602.3:p.Val4136Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12364G>A
  hgvsp: ENSP00000348702.3:p.Val4122Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val4273Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144991584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991584
    reference: chr 8
allele count: 7
allele frequency: 5.814726209463051e-5
allele num: 120384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12363C>T
  hgvsp: ENST00000356346.3:c.12363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12816C>T
  hgvsp: ENST00000322810.4:c.12816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12417C>T
  hgvsp: ENST00000357649.2:c.12417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12339C>T
  hgvsp: ENST00000354958.2:c.12339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12405C>T
  hgvsp: ENST00000345136.3:c.12405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12474C>T
  hgvsp: ENST00000527096.1:c.12474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12309C>T
  hgvsp: ENST00000398774.2:c.12309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12405C>T
  hgvsp: ENST00000354589.3:c.12405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12486C>T
  hgvsp: ENST00000436759.2:c.12486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser4272Ser
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

8-144991584-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144991584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144991584
    reference: chr 8
allele count: 2
allele frequency: 1.661350345560872e-5
allele num: 120384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.12405C>A
  hgvsp: ENST00000354589.3:c.12405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.12405C>A
  hgvsp: ENST00000345136.3:c.12405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.12363C>A
  hgvsp: ENST00000356346.3:c.12363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.12486C>A
  hgvsp: ENST00000436759.2:c.12486C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.12816C>A
  hgvsp: ENST00000322810.4:c.12816C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.12339C>A
  hgvsp: ENST00000354958.2:c.12339C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.12474C>A
  hgvsp: ENST00000527096.1:c.12474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.12309C>A
  hgvsp: ENST00000398774.2:c.12309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12417C>A
  hgvsp: ENST00000357649.2:c.12417C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser4272Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13444
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.970294028493483e-4
allele num: 65980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.179e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.004196e6

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13452
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.578743141237457e-5
allele num: 65974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.400560224089636e-3
allele num: 8568
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 2.004662e6

GenotypeQuality
all individuals: 649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13437
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.417e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 2.004276e6

FS
type: SiteQuality
SIO_000300: 9.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13436
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 2.163e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.004667e6

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13534
bin: 9.75e1
variant carriers: 217

GenotypeQuality
all individuals: 2680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 181
allele frequency: 2.74234114117754e-3
allele num: 66002
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.177966101694915e-3
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.940829429116779e-4
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.139072847682119e-4
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.009531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13371
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 2.734e0

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 2.002672e6

GenotypeQuality
all individuals: 2871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.002725e6

FS
type: SiteQuality
SIO_000300: 5.405e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.002946e6

QD
type: SiteQuality
SIO_000300: 1.608e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 3.858e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6489
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3282
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13383
bin: 9.75e1
variant carriers: 47

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 4.540763673890609e-3
allele num: 9690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028742768876639e-5
allele num: 66034
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8570
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InbreedingCoeff
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SIO_000300: -7.0e-4

QD
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DP
type: SiteQuality
SIO_000300: 2.003862e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.745e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
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SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.062706270627063e-4
allele num: 9696
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.743e0

QD
type: SiteQuality
SIO_000300: 1.293e1

DP
type: SiteQuality
SIO_000300: 2.003114e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028192471913515e-5
allele num: 66046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.897e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.481e0

BaseQRankSum
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QD
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SIO_000300: 1.256e1

InbreedingCoeff
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SIO_000300: 1.1e-3

VQSLOD
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SIO_000300: 1.33e-1

MQRankSum
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SIO_000300: 6.2e-1

ReadPosRankSum
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DP
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SIO_000300: 2.002649e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.060156571899464e-4
allele num: 9708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.056201550387597e-4
allele num: 66048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.11864406779661e-3
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.004142e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.453884377651194e-4
allele num: 16502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
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SIO_000300: -2.461e0

DP
type: SiteQuality
SIO_000300: 2.002378e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514142087093453e-5
allele num: 66044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 4.27e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.001798e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.241396025206011e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.803e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 210
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.99898e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 13318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 1.114e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.998632e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeQuality
all individuals: 6332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13318
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.549038636501486e-5
allele num: 65948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 1.114e0

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.998632e6

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03342838075593e-5
allele num: 65932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 1.997553e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.996442e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.989e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

FS
type: SiteQuality
SIO_000300: 1.628e0

QD
type: SiteQuality
SIO_000300: 1.179e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13318
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 6346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516254245511887e-5
allele num: 65952
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031353135313531e-4
allele num: 9696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 1.995966e6

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13314
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.550418638514743e-5
allele num: 65928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.99269e6

FS
type: SiteQuality
SIO_000300: 2.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.049e0

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 1.871e0

QD
type: SiteQuality
SIO_000300: 9.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.993379e6

GenotypeQuality
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515886490419597e-5
allele num: 65968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.206e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

QD
type: SiteQuality
SIO_000300: 8.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.993828e6

GenotypeQuality
all individuals: 2674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.060156571899464e-4
allele num: 9708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 1.651e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.993783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 2839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.092011152867015e-5
allele num: 65992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.994008e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13323
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65976
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.338634237605238e-3
allele num: 8552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.994932e6

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13309
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

FS
type: SiteQuality
SIO_000300: 3.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.994405e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13309
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 3.291e0

DP
type: SiteQuality
SIO_000300: 1.994405e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

GenotypeQuality
all individuals: 2777
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 230
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 557
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2003
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26073
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6187
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1638
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3138
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2573
bin: 8.25e1
variant carriers: 12

South Asian
type: Population
allele count: 87
allele frequency: 5.270810614322064e-3
allele num: 16506
num of homozygotes: 1

Other
type: Population
allele count: 13
allele frequency: 1.457399103139013e-2
allele num: 892
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.275593415587959e-4
allele num: 65974
num of homozygotes: 0

Latino
type: Population
allele count: 138
allele frequency: 1.196462632217791e-2
allele num: 11534
num of homozygotes: 3

African
type: Population
allele count: 2729
allele frequency: 2.802423495584309e-1
allele num: 9738
num of homozygotes: 387

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.637043966323667e-3
allele num: 8552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 2.031379e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.312e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
SIO_000300: 1.805e1

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12402
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 26915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.089256498818396e-5
allele num: 66012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.95529e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.48e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 2924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12402
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.48e1

DP
type: SiteQuality
SIO_000300: 1.95529e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.338087444470423e-4
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.955204e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.017e1

MQRankSum
type: SiteQuality
SIO_000300: -4.512e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 8.673999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 1.955615e6

MQ
type: SiteQuality
SIO_000300: 4.973e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 220

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 220
allele frequency: 1.332364341085271e-2
allele num: 16512
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 1.961307e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3330
bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029017992366875e-5
allele num: 66028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.95758e6

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

African
type: Population
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allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.957839e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
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SIO_000300: -3.331e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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East Asian
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num of homozygotes: 0

Other
type: Population
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South Asian
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African
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Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025443983904638e-5
allele num: 66106
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 1.960525e6

FS
type: SiteQuality
SIO_000300: 4.064e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 1.960914e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6609
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.475e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.414e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.961986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.961986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 2.475e0

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.546e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.962345e6

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 5.451e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020782986950218e-5
allele num: 66208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.962775e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16512
num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.862e1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2726
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53035336756267e-5
allele num: 66220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

DP
type: SiteQuality
SIO_000300: 1.963194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 8.401e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.223e0

FS
type: SiteQuality
SIO_000300: 8.91e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

VQSLOD
type: SiteQuality
SIO_000300: -1.714e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.964084e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.487e0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527071889901611e-5
allele num: 66268
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.96457e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 1.112e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.062e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 57

East Asian
type: Population
allele count: 6
allele frequency: 6.999533364442371e-4
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.769124264451367e-3
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.414074051721537e-4
allele num: 66278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

DP
type: SiteQuality
SIO_000300: 1.966766e6

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3345
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524613899613899e-5
allele num: 66304
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 1.964718e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.3178500331785e-4
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.966267e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.054e1

DP
type: SiteQuality
SIO_000300: 1.96534e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 2950
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.862394166741993e-4
allele num: 66378
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966655e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 6710
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 3.012774162448783e-5
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.494874184529357e-4
allele num: 8584
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

VQSLOD
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MQRankSum
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QD
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DP
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66370
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8586
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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QD
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MQRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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African
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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African
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Latino
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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MQ
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: -1.508e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 1.966298e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.741e-1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.08e0

QD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.966251e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 4.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 2729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.485e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.966268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.197e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12369
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009962977455377e-5
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.966439e6

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1